Mutational analysis of nicotinic acetylcholine receptor β2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

Epilepsia

Volumn 43, Issue 4, 2002, Pages 362-364

  Duga, Stefano ^a   Asselta, Rosanna ^a   Bonati, Maria Teresa ^a   Malcovati, Massimo ^a   Dalprà, Leda ^b   Oldani, Alessandro ^c   Zucconi, Marco ^c   Ferini Strambi, Luigi ^c   Tenchini, Maria Luisa ^a,d  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d Dipto Biol Genet le Sci Mediche   (Italy)

Author keywords

ADNFLE; Mutational screening; Sequencing

Indexed keywords

NICOTINIC RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 15Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FRONTAL LOBE EPILEPSY; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; ITALY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

BASE SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EPILEPSY, FRONTAL LOBE; GENES, DOMINANT; HUMANS; RECEPTORS, NICOTINIC; VARIATION (GENETICS);

EID: 0036220523     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.2002.39001.x     Document Type: Article

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4. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy
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